Canonical Allele Identifier: CA2579729495

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693962del , CM000685.2:g.153693962del	GRCh38
NC_000023.10:g.152959417del , CM000685.1:g.152959417del	GRCh37
NC_000023.9:g.152612611del	NCBI36
NG_012016.1:g.10666del
NG_012016.2:g.10666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1199del MANE Select	ENSP00000253122.5:p.Pro400HisfsTer21
ENST00000253122.9:c.1199del	ENSP00000253122.5:p.Pro400HisfsTer21
ENST00000413787.1:c.258-242del	ENSP00000400463.1:n.258-242del
ENST00000430077.6:c.854del	ENSP00000403041.2:p.Pro285HisfsTer21
ENST00000442457.1:c.253del
ENST00000457723.1:c.183del	ENSP00000394742.1:p.Thr62LeufsTer?
ENST00000467402.1:n.298del
ENST00000485324.1:n.1232del
NM_001142805.1:c.1169del	NP_001136277.1:p.Pro390HisfsTer21
NM_001142806.1:c.854del	NP_001136278.1:p.Pro285HisfsTer21
NM_005629.3:c.1199del	NP_005620.1:p.Pro400HisfsTer21
NM_005629.4:c.1199del MANE Select	NP_005620.1:p.Pro400HisfsTer21
NM_001142805.2:c.1169del	NP_001136277.1:p.Pro390HisfsTer21